Canonical Allele Identifier: PA915999718
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 406166
ClinVar RCV Id: RCV000464677 RCV001275277
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys392Tyr
CA16616209
NM_001195798.2:c.1175G>A